Incidental Mutation 'R1114:Or6c8b'
ID 97060
Institutional Source Beutler Lab
Gene Symbol Or6c8b
Ensembl Gene ENSMUSG00000056853
Gene Name olfactory receptor family 6 subfamily C member 8B
Synonyms Olfr765, MOR115-4, GA_x6K02T2PULF-10732607-10731678
MMRRC Submission 039187-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R1114 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128882001-128882930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128882711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 74 (I74F)
Ref Sequence ENSEMBL: ENSMUSP00000150725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071559] [ENSMUST00000216460]
AlphaFold Q7TRI6
Predicted Effect possibly damaging
Transcript: ENSMUST00000071559
AA Change: I74F

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000071490
Gene: ENSMUSG00000056853
AA Change: I74F

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.4e-49 PFAM
Pfam:7tm_1 39 288 7.8e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216460
AA Change: I74F

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
Meta Mutation Damage Score 0.2065 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.5%
  • 20x: 84.2%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700128F08Rik T A 9: 8,222,179 (GRCm39) noncoding transcript Het
Acss3 T A 10: 106,824,740 (GRCm39) R422S possibly damaging Het
Asb15 G A 6: 24,567,176 (GRCm39) R499H probably damaging Het
Aspm C T 1: 139,389,662 (GRCm39) probably benign Het
Camk2d G A 3: 126,633,941 (GRCm39) V488M probably damaging Het
Cd247 A G 1: 165,616,407 (GRCm39) K4E probably benign Het
Cdh20 A G 1: 104,906,739 (GRCm39) D522G probably damaging Het
Cse1l T A 2: 166,783,123 (GRCm39) probably benign Het
Dctn2 T A 10: 127,114,011 (GRCm39) probably null Het
Dpy19l1 A T 9: 24,336,072 (GRCm39) F545I probably benign Het
Dpy19l4 A G 4: 11,287,643 (GRCm39) probably benign Het
Dsg4 A T 18: 20,599,540 (GRCm39) T719S possibly damaging Het
Dusp12 A C 1: 170,708,586 (GRCm39) V48G probably damaging Het
Efcab7 A T 4: 99,735,452 (GRCm39) R159* probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbxw20 A G 9: 109,052,550 (GRCm39) V261A probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Inpp5j C A 11: 3,444,814 (GRCm39) R953L possibly damaging Het
Itprid2 A G 2: 79,487,873 (GRCm39) E652G probably damaging Het
Lrrk2 C T 15: 91,584,671 (GRCm39) R363* probably null Het
Ltbp1 A G 17: 75,667,770 (GRCm39) D1089G probably benign Het
Luc7l T C 17: 26,494,832 (GRCm39) probably benign Het
Mdn1 G A 4: 32,746,568 (GRCm39) probably null Het
Mgat4a A T 1: 37,503,487 (GRCm39) probably benign Het
Mmp12 A G 9: 7,358,289 (GRCm39) T392A possibly damaging Het
Nlrp12 A G 7: 3,277,166 (GRCm39) V921A probably benign Het
Or5m5 A T 2: 85,814,651 (GRCm39) I156F probably benign Het
Or5t7 G A 2: 86,507,629 (GRCm39) T16I possibly damaging Het
Pkd2l1 T C 19: 44,179,983 (GRCm39) probably benign Het
Pramel24 A G 4: 143,453,425 (GRCm39) I178V probably benign Het
Rictor C A 15: 6,823,486 (GRCm39) C1554* probably null Het
Ryr2 A G 13: 11,960,867 (GRCm39) C24R probably damaging Het
Scamp2 T A 9: 57,488,863 (GRCm39) I188N probably damaging Het
Smg1 A T 7: 117,759,013 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Synrg C A 11: 83,914,262 (GRCm39) probably benign Het
Syt9 G T 7: 107,024,562 (GRCm39) V152F possibly damaging Het
Trmt2a A G 16: 18,068,304 (GRCm39) probably benign Het
Vmn2r100 T C 17: 19,752,261 (GRCm39) I831T probably damaging Het
Vps13a G T 19: 16,727,515 (GRCm39) H196N probably benign Het
Xdh T C 17: 74,248,144 (GRCm39) probably benign Het
Other mutations in Or6c8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Or6c8b APN 10 128,882,380 (GRCm39) missense probably benign 0.06
IGL01697:Or6c8b APN 10 128,882,371 (GRCm39) missense probably damaging 1.00
R0313:Or6c8b UTSW 10 128,882,695 (GRCm39) missense possibly damaging 0.61
R0346:Or6c8b UTSW 10 128,882,342 (GRCm39) missense possibly damaging 0.90
R1157:Or6c8b UTSW 10 128,882,027 (GRCm39) missense probably benign 0.35
R2351:Or6c8b UTSW 10 128,882,797 (GRCm39) missense probably benign
R5119:Or6c8b UTSW 10 128,882,711 (GRCm39) missense possibly damaging 0.95
R5531:Or6c8b UTSW 10 128,882,433 (GRCm39) missense probably damaging 1.00
R5540:Or6c8b UTSW 10 128,882,364 (GRCm39) missense probably damaging 0.96
R5756:Or6c8b UTSW 10 128,882,095 (GRCm39) missense probably benign 0.04
R6011:Or6c8b UTSW 10 128,882,508 (GRCm39) missense probably benign
R7021:Or6c8b UTSW 10 128,882,899 (GRCm39) missense probably damaging 0.99
R7257:Or6c8b UTSW 10 128,882,324 (GRCm39) missense probably benign 0.13
R7330:Or6c8b UTSW 10 128,882,333 (GRCm39) missense probably damaging 0.97
R9235:Or6c8b UTSW 10 128,882,051 (GRCm39) missense probably benign 0.04
R9335:Or6c8b UTSW 10 128,882,614 (GRCm39) missense probably damaging 1.00
R9594:Or6c8b UTSW 10 128,882,354 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- ACAGACTCTGTTGCTCATGATTGCC -3'
(R):5'- AGCTCATGGTCGGTTTCATTCTGTC -3'

Sequencing Primer
(F):5'- CTCATGATTGCCATGTAGTGC -3'
(R):5'- TGGTGCTCATCAGAACACCTC -3'
Posted On 2014-01-05